title: Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
abstract: Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is disrupted. This mutation has been identified in the United States, Canada, and Europe and is estimated to occur at a frequency of approximately 1/500 in these populations. Thus, it appears that this newly described disorder may be a significant genetic cause of hypercholesterolemia in Western societies.
authors.affiliation: Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.
authors.forename: T L
authors.initials: TL
authors.lastname: Innerarity
authors.forename: R W
authors.initials: RW
authors.lastname: Mahley
authors.forename: K H
authors.initials: KH
authors.lastname: Weisgraber
authors.forename: T P
authors.initials: TP
authors.lastname: Bersot
authors.forename: R M
authors.initials: RM
authors.lastname: Krauss
authors.forename: G L
authors.initials: GL
authors.lastname: Vega
authors.forename: S M
authors.initials: SM
authors.lastname: Grundy
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: J
authors.initials: J
authors.lastname: Davignon
authors.forename: B J
authors.initials: BJ
authors.lastname: McCarthy
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D015183:Restriction Mapping
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B